Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780564
rs587780564
DYNC1H1
0.710 GeneticVariation BEFREE Combining linkage analysis and whole-exome sequencing, we identified a novel dominant defect in the DYNC1H1 tail domain (c.1792C>T, p.Arg598Cys) causing axonal HMSN. 25512093

2015
dbSNP: rs587780564
rs587780564
DYNC1H1
T 0.710 CausalMutation CLINVAR

dbSNP: rs207482230
rs207482230
TFG
0.010 GeneticVariation BEFREE Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. 28196470

2017
dbSNP: rs121913584
rs121913584
MPZ
0.010 GeneticVariation BEFREE Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation. 25694466

2015
dbSNP: rs1334828551
rs1334828551
MUL1
0.010 GeneticVariation BEFREE Our results indicate that DCAF8 p.R317C mutation is responsible for this specific variety of HMSN2 with infrequent giant axons and mild cardiomyopathy. 24500646

2014
dbSNP: rs587777425
rs587777425
DCAF8
0.010 GeneticVariation BEFREE Our results indicate that DCAF8 p.R317C mutation is responsible for this specific variety of HMSN2 with infrequent giant axons and mild cardiomyopathy. 24500646

2014
dbSNP: rs119483085
rs119483085
NDRG1
0.010 GeneticVariation BEFREE Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). 22978647

2013
dbSNP: rs80338934
rs80338934
SH3TC2
0.010 GeneticVariation BEFREE Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). 22978647

2013
dbSNP: rs200092345
rs200092345
CSGALNACT1
0.010 GeneticVariation BEFREE We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively. 21160489

2011
dbSNP: rs533235539
rs533235539
CSGALNACT1
0.010 GeneticVariation BEFREE We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively. 21160489

2011
dbSNP: rs371856018
rs371856018
MPZ
0.010 GeneticVariation BEFREE Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis. 16844954

2006
dbSNP: rs121913598
rs121913598
MPZ
0.010 GeneticVariation BEFREE The MPZ gene Ser44Phe mutation found in the HMSN II family presented in this study suggests that genetic analysis of HMSN II families should also include the MPZ gene, previously not considered to be involved in the axonal form of HMSN. 9595994

1998